Chromosome 8q24-Associated Cancers and MYC.
Chromosome 8q24-Associated Cancers and MYC.
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DOI：
10.1177/1947601910381380
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发表时间：
2010-06-01
期刊：
影响因子：
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通讯作者：
Freedman, Matthew L
中科院分区：
文献类型：
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作者：
Grisanzio, Chiara;Freedman, Matthew L
全基因组关联研究（GWAS）已经成功地确定了与许多性状（包括癌症）密切相关的常见多态性。位于染色体8q24上的基因沙漠与多种癌症类型相关。最接近的基因之一是MYC原癌基因。研究现在转向对这些（和其他）风险位点的机械理解。最近的研究表明，8q24位点是增强子，它们与MYC物理相互作用。一个尚未解决的问题是缺乏一个一致的关联基因型状态的风险基因座和稳态MYC表达水平在成人组织。通过进一步的体内和体外功能研究阐明8q24变体的功能及其与MYC调控的联系，将有助于更深入地了解人类癌症发展的潜在机制。
Genome-wide association studies (GWAS) have successfully identified common polymorphisms that are strongly associated with many traits, including cancer. A gene desert located on chromosome 8q24 is associated with multiple cancer types. One of the closest genes is the MYC proto-oncogene. Investigations are now turning toward a mechanistic understanding of these (and other) risk loci. Recent studies demonstrate that the 8q24 loci are enhancers and that they physically interact with MYC. A still unresolved issue is the absence of a consistent association between genotype status at the risk loci and steady-state MYC expression levels in adult human tissues. Clarifying the function of the 8q24 variants and their link to MYC regulation by further in vivo and in vitro functional studies will allow a deeper understanding of the mechanisms underlying human cancer development.